SHOX, Dyschondrosteosis, and Turner Syndrome
- DOI:
- 10.1093/med/9780199934522.003.0098
SHOX encodes a homeodomain-containing transcription factor that was discovered in a search for a short stature locus. Mutations in the gene or its enhancers can lead to short stature and specific skeletal abnormalities, and haploinsufficiency of SHOX contributes to the phenotype of Turner syndrome. Although the lack of an orthologous gene in rodents has made it difficult to study details of its developmental roles, recent work has uncovered clues to the regulation of the gene and function of the gene product. Proper levels of SHOX expression appear to be required for normal differentiation of chondrocytes in the growth plate, and progress is being made toward the identification of upstream regulators, downstream targets, and interacting protein partners. The developmental pathway in which SHOX operates is beginning to be uncovered.
Access to the complete content on Oxford Medicine Online requires a subscription or purchase. Public users are able to search the site and view the abstracts for each book and chapter without a subscription.
Please subscribe or login to access full text content.
If you have purchased a print title that contains an access token, please see the token for information about how to register your code.
For questions on access or troubleshooting, please check our FAQs, and if you can't find the answer there, please contact us.
